Rapid, robust, and affordable genetic testing for patients with ovarian cancer that allows a much larger portion of patients to benefit from personalized cancer management and their relatives to benefit from preventive strategies can be achieved.1
A new testing approach developed by researchers at The Institute of Cancer Research, London, involves patients undergoing genetic testing at the same clinic where they receive their cancer care, instead of being referred to a separate genetics testing clinic. The new testing pathway was developed as part of the Wellcome Trust-funded Mainstreaming Cancer Genetics program.
Oncology physicians and nurses completed a 30-minute online training module to participate in the program. Patients would give their consent at a regular oncology clinic visit to a trained clinician. All patients whose test results indicated they carried the BRCA gene mutation were given an appointment with the genetics team for individualized counseling on the implications of the test results.
The pilot program was for BRCA gene testing in 207 women with ovarian cancer. All of the women accepted the opportunity for testing, and test results found that 33 (16%) had a BRCA mutation. Posttest feedback was positive from both patients and clinicians.
With this new pathway, a 4-fold reduction in time and 13-fold reduction in resource equipment required was achieved, ensuring that test results could be incorporated into clinical decision making. The results were useful in the medical management of 79% of patients with active disease. Many of the 32 women found to have a BRCA mutation were then eligible to receive precision medicines suitable only for women with BRCA-related ovarian cancer.
For each patient identified with a BRCA mutation, on average, 3 family members also decided to see a geneticist to discuss the implications for them. BRCA gene mutations increase the risk of breast and ovarian cancer. Providing testing to relatives allowed them to receive individualized information on their cancer risk. Relatives who also have a BRCA gene mutation can take advantage of options that prevent cancer or improve early detection.
Cost analysis found the new pathway falls well below the threshold used to decide what tests and treatments are offered within the health system of the United Kingdom.
1. George A, Riddell D, Seal S, et al. Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients. Scientific Reports. 2016 Jul 13. doi: 10.1038/srep29506. [Epub ahead of print]